NOTCH2NL

NOTCH2NLA
Identifiers
Aliases	NOTCH2NLA, N2N, notch 2 N-terminal like, notch 2 N-terminal like A, NOTCH2NL
External IDs	OMIM: 618023 HomoloGene: 89329 GeneCards: NOTCH2NLA
Gene location (Human)
Chr.	Chromosome 1 (human)[1]
End	146,229,026 bp[1]
Gene ontology
Molecular function	• calcium ion binding; • GO:0001948 protein binding; • Notch binding;
Cellular component	• cytoplasm; • extracellular region; • cell membrane;
Biological process	• Notch signaling pathway; • multicellular organism development; • cell differentiation; • cerebral cortex development; • positive regulation of Notch signaling pathway;
	Sources:Amigo / QuickGO
Orthologs
	388677
	n/a
	ENSG00000264343
	n/a
	Q7Z3S9; P0DPK4
	n/a
	NM_203458; NM_001364006
	n/a
	NP_001350936; NP_001350937; NP_001350935; NP_982283
	n/a
	Wikidata
View/Edit Human

Notch homolog 2 N-terminal-like is a protein that in humans is encoded by the NOTCH2NL gene. It appears to play a key role in the development of the brain.[3][4][5][6]

NOTCH2NL increases the number of cortical stem cells, which while delaying the generation of neurons ultimately leads to a greater number of neurons and larger brains.[5] NOTCH2NL copy number loss and gain is associated with various neurological disorders, and they showed that loss of NOTCH2NL in human minibrains organoids leads to the organoids being smaller, while resulting in premature differentiation of cortical stem cells into neurons.[3][5] The role of NOTCH2NL in the development of the human brain together with the evolutionary history of NOTCH2NL genes, suggests that the emergence of NOTCH2NL genes may have contributed to the increase in size of the human neocortex which tripled over the last two million years.

References

GRCh38: Ensembl release 89: ENSG00000264343 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
Fiddes IT, Lodewijk GA, Mooring M, Bosworth CM, Ewing AD, Mantalas GL, et al. (May 2018). "Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis". Cell. 173 (6): 1356–1369.e22. doi:10.1016/j.cell.2018.03.051. PMC 5986104. PMID 29856954.
Suzuki IK, Gacquer D, Van Heurck R, Kumar D, Wojno M, Bilheu A, Herpoel A, Lambert N, Cheron J, Polleux F, Detours V, Vanderhaeghen P (May 2018). "Human-Specific NOTCH2NL Genes Expand Cortical Neurogenesis through Delta/Notch Regulation". Cell. 173 (6): 1370–1384.e16. doi:10.1016/j.cell.2018.03.067. PMC 6092419. PMID 29856955.
"Meet NOTCH2NL, the human-specific genes that may have given us our big brains". Eurekalert. 31 May 2018.
Yong E (31 May 2018). "A New Genetic Clue to How Humans Got Such Big Brains". The Atlantic.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000264343 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Fiddes_2018-3] Fiddes IT, Lodewijk GA, Mooring M, Bosworth CM, Ewing AD, Mantalas GL, et al. (May 2018). "Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis". Cell. 173 (6): 1356–1369.e22. doi:10.1016/j.cell.2018.03.051. PMC 5986104. PMID 29856954.

[Suzuki_2018-4] Suzuki IK, Gacquer D, Van Heurck R, Kumar D, Wojno M, Bilheu A, Herpoel A, Lambert N, Cheron J, Polleux F, Detours V, Vanderhaeghen P (May 2018). "Human-Specific NOTCH2NL Genes Expand Cortical Neurogenesis through Delta/Notch Regulation". Cell. 173 (6): 1370–1384.e16. doi:10.1016/j.cell.2018.03.067. PMC 6092419. PMID 29856955.

[eu180531-5] "Meet NOTCH2NL, the human-specific genes that may have given us our big brains". Eurekalert. 31 May 2018.

[at180531-6] Yong E (31 May 2018). "A New Genetic Clue to How Humans Got Such Big Brains". The Atlantic.